Search

  • HOME
  • Search
Case Report
A Case of Trisomy 9 Mosaicism
Young Ok Kim, Chun Hak Park, Ic Sun Choi, Hyun Jung Kim, Chang Yee Cho, Young Youn Choi
Clin Exp Pediatr. 2003;46(6):597-601.   Published online June 15, 2003
Trisomy 9 mosaic syndrome is a rarely reported chromosomal abnormality with high incidence of intrauterine growth retardation and perinatal death. Even a baby lives, he has severe mental retardation and significant malformations. The incidence and severity of malformations and mental retardation correlate with the percentage of trisomic cells in the different tissues. The characteristic craniofacial abnormalitis are narrow bifrontal diameter,...
A Case of 18p- Syndrome.
Jin Tae Kim, Byoung Soo Cho, Chang Hyo Lee, Chang Il Ahn, Kap Soon Ju
Clin Exp Pediatr. 1981;24(6):589-591.   Published online June 15, 1981
We have experienced a case of 18p- syndrome in 22 month old girl who had craniofacial anomaly such as microcephaly, hypertelorism, nystagmus, depressed nasal bridge, complete bilateral cleft palate, both ear canal stenosis and mental retardation. Chromosome culture revealed short arm deletion of chromosome 18 in E group. As far as we know, this case is the first report of...
  • PubMed Central
  • PubMed
  • Scopus
  • Directory of Open Access Journals (DOAJ)